Canonical Allele Identifier: CA1455202375
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47158992G>A , CM000666.2:g.47158992G>A GRCh38
NC_000004.11:g.47161009G>A , CM000666.1:g.47161009G>A GRCh37
NC_000004.10:g.46855766G>A NCBI36
NG_051831.1:g.132715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.241-2257G>A MANE Select ENSP00000295454.3:n.241-2257G>A
ENST00000295454.7:c.241-2257G>A ENSP00000295454.3:n.241-2257G>A
ENST00000510909.1:c.173-2257G>A ENSP00000426766.1:n.173-2257G>A
ENST00000513567.5:c.142-2257G>A ENSP00000426753.1:n.142-2257G>A
NM_000812.3:c.241-2257G>A NP_000803.2:n.241-2257G>A
XM_011513678.1:c.220-2257G>A XP_011511980.1:n.220-2257G>A
XM_017007986.2:c.241-2257G>A XP_016863475.1:n.241-2257G>A
XM_024453976.1:c.142-2257G>A XP_024309744.1:n.142-2257G>A
XM_024453977.1:c.142-2257G>A XP_024309745.1:n.142-2257G>A
XM_024453978.1:c.142-2257G>A XP_024309746.1:n.142-2257G>A
NM_000812.4:c.241-2257G>A MANE Select NP_000803.2:n.241-2257G>A